SNP Links for Protein (Select 46358428) - SNP

Links from Protein

Items: 1 to 20 of 1704

<< First< Prev

Page of 86

Next >Last >>

Select item 14906658131.

rs1490665813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27457750 (GRCh38)
2:27680617 (GRCh37)
Canonical SPDI:: NC_000002.12:27457749:C:T
Gene:: IFT172 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27457750C>T, NC_000002.11:g.27680617C>T, NG_034068.1:g.37062G>A, NM_015662.3:c.3117G>A, NM_015662.2:c.3117G>A, NM_015662.1:c.3117G>A, NM_001410739.1:c.3051G>A, XM_006711986.4:c.3054G>A, XM_006711986.3:c.3054G>A, XM_006711986.2:c.3054G>A, XM_006711986.1:c.3054G>A, XM_011532759.3:c.1557G>A, XM_011532759.2:c.1557G>A, XM_011532759.1:c.1557G>A, XM_011532760.3:c.1182G>A, XM_011532760.2:c.1182G>A, XM_011532760.1:c.1182G>A, XM_005264254.2:c.3051G>A, XM_006711987.2:c.3117G>A, XM_006711987.1:c.3117G>A, XM_011532758.2:c.3117G>A, XM_011532758.1:c.3117G>A, XM_047443900.1:c.3051G>A, XM_047443901.1:c.2436G>A, XM_047443902.1:c.2436G>A, XM_047443903.1:c.3051G>A, XM_047443904.1:c.1254G>A

Select item 14905544202.

rs1490554420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27459381 (GRCh38)
2:27682248 (GRCh37)
Canonical SPDI:: NC_000002.12:27459380:A:G
Gene:: IFT172 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27459381A>G, NC_000002.11:g.27682248A>G, NG_034068.1:g.35431T>C, NM_015662.3:c.2784T>C, NM_015662.2:c.2784T>C, NM_015662.1:c.2784T>C, NM_001410739.1:c.2718T>C, NG_082498.1:g.663A>G, XM_006711986.4:c.2721T>C, XM_006711986.3:c.2721T>C, XM_006711986.2:c.2721T>C, XM_006711986.1:c.2721T>C, XM_011532759.3:c.1224T>C, XM_011532759.2:c.1224T>C, XM_011532759.1:c.1224T>C, XM_011532760.3:c.849T>C, XM_011532760.2:c.849T>C, XM_011532760.1:c.849T>C, XM_005264254.2:c.2718T>C, XM_006711987.2:c.2784T>C, XM_006711987.1:c.2784T>C, XM_011532758.2:c.2784T>C, XM_011532758.1:c.2784T>C, XM_047443900.1:c.2718T>C, XM_047443901.1:c.2103T>C, XM_047443902.1:c.2103T>C, XM_047443903.1:c.2718T>C, XM_047443904.1:c.921T>C

Select item 14898961383.

rs1489896138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27449553 (GRCh38)
2:27672420 (GRCh37)
Canonical SPDI:: NC_000002.12:27449552:G:A
Gene:: IFT172 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.27449553G>A, NC_000002.11:g.27672420G>A, NG_034068.1:g.45259C>T, NM_015662.3:c.4170C>T, NM_015662.2:c.4170C>T, NM_015662.1:c.4170C>T, NM_001410739.1:c.4104C>T, XM_006711986.4:c.4107C>T, XM_006711986.3:c.4107C>T, XM_006711986.2:c.4107C>T, XM_006711986.1:c.4107C>T, XM_011532759.3:c.2610C>T, XM_011532759.2:c.2610C>T, XM_011532759.1:c.2610C>T, XM_011532760.3:c.2235C>T, XM_011532760.2:c.2235C>T, XM_011532760.1:c.2235C>T, XM_005264254.2:c.4104C>T, XM_006711987.2:c.4170C>T, XM_006711987.1:c.4170C>T, XM_047443900.1:c.4104C>T, XM_047443901.1:c.3489C>T, XM_047443902.1:c.3489C>T, XM_047443904.1:c.2307C>T

Select item 14896741924.

rs1489674192 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:27459766 (GRCh38)
2:27682634 (GRCh37)
Canonical SPDI:: NC_000002.12:27459766:CCCCCC:CCCCCCC
Gene:: IFT172 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27459772dup, NC_000002.11:g.27682639dup, NG_034068.1:g.35045dup, NM_015662.3:c.2584dup, NM_015662.2:c.2584dup, NM_015662.1:c.2584dup, NM_001410739.1:c.2518dup, NG_082498.1:g.1054dup, XM_006711986.4:c.2521dup, XM_006711986.3:c.2521dup, XM_006711986.2:c.2521dup, XM_006711986.1:c.2521dup, XM_011532759.3:c.1024dup, XM_011532759.2:c.1024dup, XM_011532759.1:c.1024dup, XM_011532760.3:c.649dup, XM_011532760.2:c.649dup, XM_011532760.1:c.649dup, XM_005264254.2:c.2518dup, XM_006711987.2:c.2584dup, XM_006711987.1:c.2584dup, XM_011532758.2:c.2584dup, XM_011532758.1:c.2584dup, XM_047443900.1:c.2518dup, XM_047443901.1:c.1903dup, XM_047443902.1:c.1903dup, XM_047443903.1:c.2518dup, XM_047443904.1:c.721dup, NP_056477.1:p.Asp862fs, XP_006712049.1:p.Asp841fs, XP_011531061.1:p.Asp342fs, XP_011531062.1:p.Asp217fs, XP_005264311.1:p.Asp840fs, XP_006712050.1:p.Asp862fs, XP_011531060.1:p.Asp862fs, XP_047299856.1:p.Asp840fs, XP_047299857.1:p.Asp635fs, XP_047299858.1:p.Asp635fs, XP_047299859.1:p.Asp840fs, XP_047299860.1:p.Asp241fs

Select item 14888371775.

rs1488837177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27461334 (GRCh38)
2:27684201 (GRCh37)
Canonical SPDI:: NC_000002.12:27461333:G:A,NC_000002.12:27461333:G:C
Gene:: IFT172 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27461334G>A, NC_000002.12:g.27461334G>C, NC_000002.11:g.27684201G>A, NC_000002.11:g.27684201G>C, NG_034068.1:g.33478C>T, NG_034068.1:g.33478C>G, NM_015662.3:c.2377C>T, NM_015662.3:c.2377C>G, NM_015662.2:c.2377C>T, NM_015662.2:c.2377C>G, NM_015662.1:c.2377C>T, NM_015662.1:c.2377C>G, NM_001410739.1:c.2311C>T, NM_001410739.1:c.2311C>G, XM_006711986.4:c.2314C>T, XM_006711986.4:c.2314C>G, XM_006711986.3:c.2314C>T, XM_006711986.3:c.2314C>G, XM_006711986.2:c.2314C>T, XM_006711986.2:c.2314C>G, XM_006711986.1:c.2314C>T, XM_006711986.1:c.2314C>G, XM_011532759.3:c.817C>T, XM_011532759.3:c.817C>G, XM_011532759.2:c.817C>T, XM_011532759.2:c.817C>G, XM_011532759.1:c.817C>T, XM_011532759.1:c.817C>G, XM_011532760.3:c.442C>T, XM_011532760.3:c.442C>G, XM_011532760.2:c.442C>T, XM_011532760.2:c.442C>G, XM_011532760.1:c.442C>T, XM_011532760.1:c.442C>G, XM_005264254.2:c.2311C>T, XM_005264254.2:c.2311C>G, XM_006711987.2:c.2377C>T, XM_006711987.2:c.2377C>G, XM_006711987.1:c.2377C>T, XM_006711987.1:c.2377C>G, XM_011532758.2:c.2377C>T, XM_011532758.2:c.2377C>G, XM_011532758.1:c.2377C>T, XM_011532758.1:c.2377C>G, XM_047443900.1:c.2311C>T, XM_047443900.1:c.2311C>G, XM_047443901.1:c.1696C>T, XM_047443901.1:c.1696C>G, XM_047443902.1:c.1696C>T, XM_047443902.1:c.1696C>G, XM_047443903.1:c.2311C>T, XM_047443903.1:c.2311C>G, XM_047443904.1:c.514C>T, XM_047443904.1:c.514C>G, NP_056477.1:p.Leu793Val, XP_006712049.1:p.Leu772Val, XP_011531061.1:p.Leu273Val, XP_011531062.1:p.Leu148Val, XP_005264311.1:p.Leu771Val, XP_006712050.1:p.Leu793Val, XP_011531060.1:p.Leu793Val, XP_047299856.1:p.Leu771Val, XP_047299857.1:p.Leu566Val, XP_047299858.1:p.Leu566Val, XP_047299859.1:p.Leu771Val, XP_047299860.1:p.Leu172Val

Select item 14888101306.

rs1488810130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27445389 (GRCh38)
2:27668256 (GRCh37)
Canonical SPDI:: NC_000002.12:27445388:C:G
Gene:: IFT172 (Varview), KRTCAP3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27445389C>G, NC_000002.11:g.27668256C>G, NG_034068.1:g.49423G>C, NM_015662.3:c.4975G>C, NM_015662.2:c.4975G>C, NM_015662.1:c.4975G>C, NM_001410739.1:c.4909G>C, XM_006711986.4:c.4912G>C, XM_006711986.3:c.4912G>C, XM_006711986.2:c.4912G>C, XM_006711986.1:c.4912G>C, XM_011532759.3:c.3415G>C, XM_011532759.2:c.3415G>C, XM_011532759.1:c.3415G>C, XM_011532760.3:c.3040G>C, XM_011532760.2:c.3040G>C, XM_011532760.1:c.3040G>C, XM_005264254.2:c.4909G>C, XM_006711987.2:c.4876G>C, XM_006711987.1:c.4876G>C, XM_047443900.1:c.4810G>C, XM_047443901.1:c.4294G>C, XM_047443902.1:c.4294G>C, XM_047443904.1:c.3112G>C, NP_056477.1:p.Glu1659Gln, XP_006712049.1:p.Glu1638Gln, XP_011531061.1:p.Glu1139Gln, XP_011531062.1:p.Glu1014Gln, XP_005264311.1:p.Glu1637Gln, XP_006712050.1:p.Glu1626Gln, XP_047299856.1:p.Glu1604Gln, XP_047299857.1:p.Glu1432Gln, XP_047299858.1:p.Glu1432Gln, XP_047299860.1:p.Glu1038Gln

Select item 14883939847.

rs1488393984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27457647 (GRCh38)
2:27680514 (GRCh37)
Canonical SPDI:: NC_000002.12:27457646:C:T
Gene:: IFT172 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27457647C>T, NC_000002.11:g.27680514C>T, NG_034068.1:g.37165G>A, NM_015662.3:c.3220G>A, NM_015662.2:c.3220G>A, NM_015662.1:c.3220G>A, NM_001410739.1:c.3154G>A, XM_006711986.4:c.3157G>A, XM_006711986.3:c.3157G>A, XM_006711986.2:c.3157G>A, XM_006711986.1:c.3157G>A, XM_011532759.3:c.1660G>A, XM_011532759.2:c.1660G>A, XM_011532759.1:c.1660G>A, XM_011532760.3:c.1285G>A, XM_011532760.2:c.1285G>A, XM_011532760.1:c.1285G>A, XM_005264254.2:c.3154G>A, XM_006711987.2:c.3220G>A, XM_006711987.1:c.3220G>A, XM_011532758.2:c.3220G>A, XM_011532758.1:c.3220G>A, XM_047443900.1:c.3154G>A, XM_047443901.1:c.2539G>A, XM_047443902.1:c.2539G>A, XM_047443903.1:c.3154G>A, XM_047443904.1:c.1357G>A, NP_056477.1:p.Ala1074Thr, XP_006712049.1:p.Ala1053Thr, XP_011531061.1:p.Ala554Thr, XP_011531062.1:p.Ala429Thr, XP_005264311.1:p.Ala1052Thr, XP_006712050.1:p.Ala1074Thr, XP_011531060.1:p.Ala1074Thr, XP_047299856.1:p.Ala1052Thr, XP_047299857.1:p.Ala847Thr, XP_047299858.1:p.Ala847Thr, XP_047299859.1:p.Ala1052Thr, XP_047299860.1:p.Ala453Thr

Select item 14881124908.

rs1488112490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27448999 (GRCh38)
2:27671866 (GRCh37)
Canonical SPDI:: NC_000002.12:27448998:C:G
Gene:: IFT172 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27448999C>G, NC_000002.11:g.27671866C>G, NG_034068.1:g.45813G>C, NM_015662.3:c.4344G>C, NM_015662.2:c.4344G>C, NM_015662.1:c.4344G>C, NM_001410739.1:c.4278G>C, XM_006711986.4:c.4281G>C, XM_006711986.3:c.4281G>C, XM_006711986.2:c.4281G>C, XM_006711986.1:c.4281G>C, XM_011532759.3:c.2784G>C, XM_011532759.2:c.2784G>C, XM_011532759.1:c.2784G>C, XM_011532760.3:c.2409G>C, XM_011532760.2:c.2409G>C, XM_011532760.1:c.2409G>C, XM_005264254.2:c.4278G>C, XM_006711987.2:c.4344G>C, XM_006711987.1:c.4344G>C, XM_047443900.1:c.4278G>C, XM_047443901.1:c.3663G>C, XM_047443902.1:c.3663G>C, XM_047443904.1:c.2481G>C, NP_056477.1:p.Leu1448Phe, XP_006712049.1:p.Leu1427Phe, XP_011531061.1:p.Leu928Phe, XP_011531062.1:p.Leu803Phe, XP_005264311.1:p.Leu1426Phe, XP_006712050.1:p.Leu1448Phe, XP_047299856.1:p.Leu1426Phe, XP_047299857.1:p.Leu1221Phe, XP_047299858.1:p.Leu1221Phe, XP_047299860.1:p.Leu827Phe

Select item 14873537229.

rs1487353722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27462793 (GRCh38)
2:27685660 (GRCh37)
Canonical SPDI:: NC_000002.12:27462792:C:A,NC_000002.12:27462792:C:T
Gene:: IFT172 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27462793C>A, NC_000002.12:g.27462793C>T, NC_000002.11:g.27685660C>A, NC_000002.11:g.27685660C>T, NG_034068.1:g.32019G>T, NG_034068.1:g.32019G>A, NM_015662.3:c.2023G>T, NM_015662.3:c.2023G>A, NM_015662.2:c.2023G>T, NM_015662.2:c.2023G>A, NM_015662.1:c.2023G>T, NM_015662.1:c.2023G>A, NM_001410739.1:c.1957G>T, NM_001410739.1:c.1957G>A, XM_006711986.4:c.1960G>T, XM_006711986.4:c.1960G>A, XM_006711986.3:c.1960G>T, XM_006711986.3:c.1960G>A, XM_006711986.2:c.1960G>T, XM_006711986.2:c.1960G>A, XM_006711986.1:c.1960G>T, XM_006711986.1:c.1960G>A, XM_011532759.3:c.463G>T, XM_011532759.3:c.463G>A, XM_011532759.2:c.463G>T, XM_011532759.2:c.463G>A, XM_011532759.1:c.463G>T, XM_011532759.1:c.463G>A, XM_011532760.3:c.88G>T, XM_011532760.3:c.88G>A, XM_011532760.2:c.88G>T, XM_011532760.2:c.88G>A, XM_011532760.1:c.88G>T, XM_011532760.1:c.88G>A, XM_005264254.2:c.1957G>T, XM_005264254.2:c.1957G>A, XM_006711987.2:c.2023G>T, XM_006711987.2:c.2023G>A, XM_006711987.1:c.2023G>T, XM_006711987.1:c.2023G>A, XM_011532758.2:c.2023G>T, XM_011532758.2:c.2023G>A, XM_011532758.1:c.2023G>T, XM_011532758.1:c.2023G>A, XM_047443900.1:c.1957G>T, XM_047443900.1:c.1957G>A, XM_047443901.1:c.1342G>T, XM_047443901.1:c.1342G>A, XM_047443902.1:c.1342G>T, XM_047443902.1:c.1342G>A, XM_047443903.1:c.1957G>T, XM_047443903.1:c.1957G>A, XM_047443904.1:c.160G>T, XM_047443904.1:c.160G>A, NP_056477.1:p.Gly675Cys, NP_056477.1:p.Gly675Ser, XP_006712049.1:p.Gly654Cys, XP_006712049.1:p.Gly654Ser, XP_011531061.1:p.Gly155Cys, XP_011531061.1:p.Gly155Ser, XP_011531062.1:p.Gly30Cys, XP_011531062.1:p.Gly30Ser, XP_005264311.1:p.Gly653Cys, XP_005264311.1:p.Gly653Ser, XP_006712050.1:p.Gly675Cys, XP_006712050.1:p.Gly675Ser, XP_011531060.1:p.Gly675Cys, XP_011531060.1:p.Gly675Ser, XP_047299856.1:p.Gly653Cys, XP_047299856.1:p.Gly653Ser, XP_047299857.1:p.Gly448Cys, XP_047299857.1:p.Gly448Ser, XP_047299858.1:p.Gly448Cys, XP_047299858.1:p.Gly448Ser, XP_047299859.1:p.Gly653Cys, XP_047299859.1:p.Gly653Ser, XP_047299860.1:p.Gly54Cys, XP_047299860.1:p.Gly54Ser

Select item 148706697710.

rs1487066977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27472293 (GRCh38)
2:27695160 (GRCh37)
Canonical SPDI:: NC_000002.12:27472292:T:C
Gene:: IFT172 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27472293T>C, NC_000002.11:g.27695160T>C, NG_034068.1:g.22519A>G, NM_015662.3:c.1481A>G, NM_015662.2:c.1481A>G, NM_015662.1:c.1481A>G, NM_001410739.1:c.1481A>G, XM_006711986.4:c.1418A>G, XM_006711986.3:c.1418A>G, XM_006711986.2:c.1418A>G, XM_006711986.1:c.1418A>G, XM_005264254.2:c.1481A>G, XM_006711987.2:c.1481A>G, XM_006711987.1:c.1481A>G, XM_011532758.2:c.1481A>G, XM_011532758.1:c.1481A>G, XM_047443900.1:c.1481A>G, XM_047443901.1:c.800A>G, XM_047443902.1:c.800A>G, XM_047443903.1:c.1481A>G, XM_047443904.1:c.31A>G, NP_056477.1:p.Asn494Ser, XP_006712049.1:p.Asn473Ser, XP_005264311.1:p.Asn494Ser, XP_006712050.1:p.Asn494Ser, XP_011531060.1:p.Asn494Ser, XP_047299856.1:p.Asn494Ser, XP_047299857.1:p.Asn267Ser, XP_047299858.1:p.Asn267Ser, XP_047299859.1:p.Asn494Ser, XP_047299860.1:p.Met11Val

Select item 148702621511.

rs1487026215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27485042 (GRCh38)
2:27707909 (GRCh37)
Canonical SPDI:: NC_000002.12:27485041:T:C
Gene:: IFT172 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27485042T>C, NC_000002.11:g.27707909T>C, NG_034068.1:g.9770A>G, NM_015662.3:c.272A>G, NM_015662.2:c.272A>G, NM_015662.1:c.272A>G, NM_001410739.1:c.272A>G, XM_006711986.4:c.209A>G, XM_006711986.3:c.209A>G, XM_006711986.2:c.209A>G, XM_006711986.1:c.209A>G, XM_005264254.2:c.272A>G, XM_006711987.2:c.272A>G, XM_006711987.1:c.272A>G, XM_011532758.2:c.272A>G, XM_011532758.1:c.272A>G, XM_047443900.1:c.272A>G, XM_047443902.1:c.-370A>G, XM_047443903.1:c.272A>G, NP_056477.1:p.Tyr91Cys, XP_006712049.1:p.Tyr70Cys, XP_005264311.1:p.Tyr91Cys, XP_006712050.1:p.Tyr91Cys, XP_011531060.1:p.Tyr91Cys, XP_047299856.1:p.Tyr91Cys, XP_047299859.1:p.Tyr91Cys

Select item 148678136412.

rs1486781364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27459711 (GRCh38)
2:27682578 (GRCh37)
Canonical SPDI:: NC_000002.12:27459710:G:T
Gene:: IFT172 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27459711G>T, NC_000002.11:g.27682578G>T, NG_034068.1:g.35101C>A, NM_015662.3:c.2640C>A, NM_015662.2:c.2640C>A, NM_015662.1:c.2640C>A, NM_001410739.1:c.2574C>A, NG_082498.1:g.993G>T, XM_006711986.4:c.2577C>A, XM_006711986.3:c.2577C>A, XM_006711986.2:c.2577C>A, XM_006711986.1:c.2577C>A, XM_011532759.3:c.1080C>A, XM_011532759.2:c.1080C>A, XM_011532759.1:c.1080C>A, XM_011532760.3:c.705C>A, XM_011532760.2:c.705C>A, XM_011532760.1:c.705C>A, XM_005264254.2:c.2574C>A, XM_006711987.2:c.2640C>A, XM_006711987.1:c.2640C>A, XM_011532758.2:c.2640C>A, XM_011532758.1:c.2640C>A, XM_047443900.1:c.2574C>A, XM_047443901.1:c.1959C>A, XM_047443902.1:c.1959C>A, XM_047443903.1:c.2574C>A, XM_047443904.1:c.777C>A

Select item 148672002213.

rs1486720022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27483658 (GRCh38)
2:27706525 (GRCh37)
Canonical SPDI:: NC_000002.12:27483657:A:G
Gene:: IFT172 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27483658A>G, NC_000002.11:g.27706525A>G, NG_034068.1:g.11154T>C, NM_015662.3:c.404T>C, NM_015662.2:c.404T>C, NM_015662.1:c.404T>C, NM_001410739.1:c.404T>C, XM_006711986.4:c.341T>C, XM_006711986.3:c.341T>C, XM_006711986.2:c.341T>C, XM_006711986.1:c.341T>C, XM_005264254.2:c.404T>C, XM_006711987.2:c.404T>C, XM_006711987.1:c.404T>C, XM_011532758.2:c.404T>C, XM_011532758.1:c.404T>C, XM_047443900.1:c.404T>C, XM_047443901.1:c.-278T>C, XM_047443902.1:c.-278T>C, XM_047443903.1:c.404T>C, NP_056477.1:p.Val135Ala, XP_006712049.1:p.Val114Ala, XP_005264311.1:p.Val135Ala, XP_006712050.1:p.Val135Ala, XP_011531060.1:p.Val135Ala, XP_047299856.1:p.Val135Ala, XP_047299859.1:p.Val135Ala

Select item 148661518714.

rs1486615187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27450028 (GRCh38)
2:27672895 (GRCh37)
Canonical SPDI:: NC_000002.12:27450027:G:C
Gene:: IFT172 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27450028G>C, NC_000002.11:g.27672895G>C, NG_034068.1:g.44784C>G, NM_015662.3:c.4020C>G, NM_015662.2:c.4020C>G, NM_015662.1:c.4020C>G, NM_001410739.1:c.3954C>G, XM_006711986.4:c.3957C>G, XM_006711986.3:c.3957C>G, XM_006711986.2:c.3957C>G, XM_006711986.1:c.3957C>G, XM_011532759.3:c.2460C>G, XM_011532759.2:c.2460C>G, XM_011532759.1:c.2460C>G, XM_011532760.3:c.2085C>G, XM_011532760.2:c.2085C>G, XM_011532760.1:c.2085C>G, XM_005264254.2:c.3954C>G, XM_006711987.2:c.4020C>G, XM_006711987.1:c.4020C>G, XM_047443900.1:c.3954C>G, XM_047443901.1:c.3339C>G, XM_047443902.1:c.3339C>G, XM_047443904.1:c.2157C>G

Select item 148621751815.

rs1486217518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27478041 (GRCh38)
2:27700908 (GRCh37)
Canonical SPDI:: NC_000002.12:27478040:G:C
Gene:: IFT172 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27478041G>C, NC_000002.11:g.27700908G>C, NG_034068.1:g.16771C>G, NM_015662.3:c.1121C>G, NM_015662.2:c.1121C>G, NM_015662.1:c.1121C>G, NM_001410739.1:c.1121C>G, XM_006711986.4:c.1058C>G, XM_006711986.3:c.1058C>G, XM_006711986.2:c.1058C>G, XM_006711986.1:c.1058C>G, XM_005264254.2:c.1121C>G, XM_006711987.2:c.1121C>G, XM_006711987.1:c.1121C>G, XM_011532758.2:c.1121C>G, XM_011532758.1:c.1121C>G, XM_047443900.1:c.1121C>G, XM_047443901.1:c.440C>G, XM_047443902.1:c.440C>G, XM_047443903.1:c.1121C>G, NP_056477.1:p.Ser374Ter, XP_006712049.1:p.Ser353Ter, XP_005264311.1:p.Ser374Ter, XP_006712050.1:p.Ser374Ter, XP_011531060.1:p.Ser374Ter, XP_047299856.1:p.Ser374Ter, XP_047299857.1:p.Ser147Ter, XP_047299858.1:p.Ser147Ter, XP_047299859.1:p.Ser374Ter

Select item 148621407416.

rs1486214074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27445980 (GRCh38)
2:27668847 (GRCh37)
Canonical SPDI:: NC_000002.12:27445979:G:A,NC_000002.12:27445979:G:C
Gene:: IFT172 (Varview), KRTCAP3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27445980G>A, NC_000002.12:g.27445980G>C, NC_000002.11:g.27668847G>A, NC_000002.11:g.27668847G>C, NG_034068.1:g.48832C>T, NG_034068.1:g.48832C>G, NM_015662.3:c.4764C>T, NM_015662.3:c.4764C>G, NM_015662.2:c.4764C>T, NM_015662.2:c.4764C>G, NM_015662.1:c.4764C>T, NM_015662.1:c.4764C>G, NM_001410739.1:c.4698C>T, NM_001410739.1:c.4698C>G, XM_006711986.4:c.4701C>T, XM_006711986.4:c.4701C>G, XM_006711986.3:c.4701C>T, XM_006711986.3:c.4701C>G, XM_006711986.2:c.4701C>T, XM_006711986.2:c.4701C>G, XM_006711986.1:c.4701C>T, XM_006711986.1:c.4701C>G, XM_011532759.3:c.3204C>T, XM_011532759.3:c.3204C>G, XM_011532759.2:c.3204C>T, XM_011532759.2:c.3204C>G, XM_011532759.1:c.3204C>T, XM_011532759.1:c.3204C>G, XM_011532760.3:c.2829C>T, XM_011532760.3:c.2829C>G, XM_011532760.2:c.2829C>T, XM_011532760.2:c.2829C>G, XM_011532760.1:c.2829C>T, XM_011532760.1:c.2829C>G, XM_005264254.2:c.4698C>T, XM_005264254.2:c.4698C>G, XM_006711987.2:c.4764C>T, XM_006711987.2:c.4764C>G, XM_006711987.1:c.4764C>T, XM_006711987.1:c.4764C>G, XM_047443900.1:c.4698C>T, XM_047443900.1:c.4698C>G, XM_047443901.1:c.4083C>T, XM_047443901.1:c.4083C>G, XM_047443902.1:c.4083C>T, XM_047443902.1:c.4083C>G, XM_047443904.1:c.2901C>T, XM_047443904.1:c.2901C>G

Select item 148529251517.

rs1485292515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27465777 (GRCh38)
2:27688644 (GRCh37)
Canonical SPDI:: NC_000002.12:27465776:C:T
Gene:: IFT172 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27465777C>T, NC_000002.11:g.27688644C>T, NG_034068.1:g.29035G>A, NM_015662.3:c.1798G>A, NM_015662.2:c.1798G>A, NM_015662.1:c.1798G>A, NM_001410739.1:c.1732G>A, XM_006711986.4:c.1735G>A, XM_006711986.3:c.1735G>A, XM_006711986.2:c.1735G>A, XM_006711986.1:c.1735G>A, XM_011532759.3:c.238G>A, XM_011532759.2:c.238G>A, XM_011532759.1:c.238G>A, XM_005264254.2:c.1732G>A, XM_006711987.2:c.1798G>A, XM_006711987.1:c.1798G>A, XM_011532758.2:c.1798G>A, XM_011532758.1:c.1798G>A, XM_047443900.1:c.1732G>A, XM_047443901.1:c.1117G>A, XM_047443902.1:c.1117G>A, XM_047443903.1:c.1732G>A, NP_056477.1:p.Gly600Arg, XP_006712049.1:p.Gly579Arg, XP_011531061.1:p.Gly80Arg, XP_005264311.1:p.Gly578Arg, XP_006712050.1:p.Gly600Arg, XP_011531060.1:p.Gly600Arg, XP_047299856.1:p.Gly578Arg, XP_047299857.1:p.Gly373Arg, XP_047299858.1:p.Gly373Arg, XP_047299859.1:p.Gly578Arg

Select item 148516087118.

rs1485160871 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27463134 (GRCh38)
2:27686001 (GRCh37)
Canonical SPDI:: NC_000002.12:27463133:T:A
Gene:: IFT172 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.27463134T>A, NC_000002.11:g.27686001T>A, NG_034068.1:g.31678A>T, NM_015662.3:c.1985A>T, NM_015662.2:c.1985A>T, NM_015662.1:c.1985A>T, NM_001410739.1:c.1919A>T, XM_006711986.4:c.1922A>T, XM_006711986.3:c.1922A>T, XM_006711986.2:c.1922A>T, XM_006711986.1:c.1922A>T, XM_011532759.3:c.425A>T, XM_011532759.2:c.425A>T, XM_011532759.1:c.425A>T, XM_011532760.3:c.50A>T, XM_011532760.2:c.50A>T, XM_011532760.1:c.50A>T, XM_005264254.2:c.1919A>T, XM_006711987.2:c.1985A>T, XM_006711987.1:c.1985A>T, XM_011532758.2:c.1985A>T, XM_011532758.1:c.1985A>T, XM_047443900.1:c.1919A>T, XM_047443901.1:c.1304A>T, XM_047443902.1:c.1304A>T, XM_047443903.1:c.1919A>T, XM_047443904.1:c.122A>T, NP_056477.1:p.Glu662Val, XP_006712049.1:p.Glu641Val, XP_011531061.1:p.Glu142Val, XP_011531062.1:p.Glu17Val, XP_005264311.1:p.Glu640Val, XP_006712050.1:p.Glu662Val, XP_011531060.1:p.Glu662Val, XP_047299856.1:p.Glu640Val, XP_047299857.1:p.Glu435Val, XP_047299858.1:p.Glu435Val, XP_047299859.1:p.Glu640Val, XP_047299860.1:p.Glu41Val

Select item 148502695219.

rs1485026952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27457678 (GRCh38)
2:27680545 (GRCh37)
Canonical SPDI:: NC_000002.12:27457677:G:A
Gene:: IFT172 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.27457678G>A, NC_000002.11:g.27680545G>A, NG_034068.1:g.37134C>T, NM_015662.3:c.3189C>T, NM_015662.2:c.3189C>T, NM_015662.1:c.3189C>T, NM_001410739.1:c.3123C>T, XM_006711986.4:c.3126C>T, XM_006711986.3:c.3126C>T, XM_006711986.2:c.3126C>T, XM_006711986.1:c.3126C>T, XM_011532759.3:c.1629C>T, XM_011532759.2:c.1629C>T, XM_011532759.1:c.1629C>T, XM_011532760.3:c.1254C>T, XM_011532760.2:c.1254C>T, XM_011532760.1:c.1254C>T, XM_005264254.2:c.3123C>T, XM_006711987.2:c.3189C>T, XM_006711987.1:c.3189C>T, XM_011532758.2:c.3189C>T, XM_011532758.1:c.3189C>T, XM_047443900.1:c.3123C>T, XM_047443901.1:c.2508C>T, XM_047443902.1:c.2508C>T, XM_047443903.1:c.3123C>T, XM_047443904.1:c.1326C>T

Select item 148393415120.

rs1483934151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27483318 (GRCh38)
2:27706185 (GRCh37)
Canonical SPDI:: NC_000002.12:27483317:A:G
Gene:: IFT172 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.27483318A>G, NC_000002.11:g.27706185A>G, NG_034068.1:g.11494T>C, NM_015662.3:c.541T>C, NM_015662.2:c.541T>C, NM_015662.1:c.541T>C, NM_001410739.1:c.541T>C, XM_006711986.4:c.478T>C, XM_006711986.3:c.478T>C, XM_006711986.2:c.478T>C, XM_006711986.1:c.478T>C, XM_005264254.2:c.541T>C, XM_006711987.2:c.541T>C, XM_006711987.1:c.541T>C, XM_011532758.2:c.541T>C, XM_011532758.1:c.541T>C, XM_047443900.1:c.541T>C, XM_047443901.1:c.-141T>C, XM_047443902.1:c.-141T>C, XM_047443903.1:c.541T>C, NP_056477.1:p.Phe181Leu, XP_006712049.1:p.Phe160Leu, XP_005264311.1:p.Phe181Leu, XP_006712050.1:p.Phe181Leu, XP_011531060.1:p.Phe181Leu, XP_047299856.1:p.Phe181Leu, XP_047299859.1:p.Phe181Leu

<< First< Prev

Page of 86

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 1704

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity